Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000216194
Querying Taster for transcript #2: ENST00000342312
Querying Taster for transcript #3: ENST00000454266
MT speed 0 s - this script 2.338807 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADSLdisease_causing_automatic0.99826459630979simple_aaeaffected0M239Tsingle base exchangers119450945show file
ADSLdisease_causing_automatic0.999714837277837simple_aaeaffected0M225Tsingle base exchangers119450945show file
ADSLdisease_causing_automatic0.999714837277837simple_aaeaffected0M225Tsingle base exchangers119450945show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99826459630979 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM0910819)
  • known disease mutation: rs2468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40755283T>CN/A show variant in all transcripts   IGV
HGNC symbol ADSL
Ensembl transcript ID ENST00000454266
Genbank transcript ID N/A
UniProt peptide P30566
alteration type single base exchange
alteration region CDS
DNA changes c.716T>C
cDNA.747T>C
g.12777T>C
AA changes M239T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 239
frameshift no
known variant Reference ID: rs119450945
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2468 (pathogenic for Adenylosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7331
3.0061
(flanking)2.8591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased12769wt: 0.9918 / mu: 0.9944 (marginal change - not scored)wt: CAGCTTGACAAGATG
mu: CAGCTTGACAAGACG		 GCTT|gaca
Donor increased12782wt: 0.44 / mu: 0.54wt: TGGTGACAGAAAAGG
mu: CGGTGACAGAAAAGG		 GTGA|caga
Donor gained127780.53mu: AAGACGGTGACAGAA GACG|gtga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      239GDDHKVEQLDKMVTEKAGFKRAFI
mutated  not conserved    239GDDHKVEQLDKTVTEKAGFKRAF
Ptroglodytes  all identical  ENSPTRG00000014407  225GDDHKVEQLDKMVTEKAGFKRAF
Mmulatta  all identical  ENSMMUG00000005341  106GDDHKVEQLDKMVTDKAGFKRAF
Fcatus  all conserved  ENSFCAG00000004798  225GDDQKVEQLDKIVTEKAGFKXXX
Mmusculus  all identical  ENSMUSG00000022407  225GDHQKVEQLDKMVTEKAGFKRAF
Ggallus  all conserved  ENSGALG00000012034  226GDHSKVEELDRLVTAKAGFKRSY
Trubripes  all conserved  ENSTRUG00000001024  241GDHDKVEELDRLVTEMASFQKSY
Drerio  all identical  ENSDARG00000017049  223GDHDKVEELDKMVTEMAGFKKSY
Dmelanogaster  all conserved  FBgn0038467  220GDGEKVKQLDQLVTELAGFKKAY
Celegans  all conserved  R06C7.5  221GDESKVEALDELVTKKANF
Xtropicalis  all identical  ENSXETG00000006328  244GDHDKVEELDRMVTSKAGFKRAY
protein features
start (aa)end (aa)featuredetails 
240242STRANDmight get lost (downstream of altered splice site)
246274HELIXmight get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
299313HELIXmight get lost (downstream of altered splice site)
316323HELIXmight get lost (downstream of altered splice site)
331333HELIXmight get lost (downstream of altered splice site)
334360HELIXmight get lost (downstream of altered splice site)
366380HELIXmight get lost (downstream of altered splice site)
382389HELIXmight get lost (downstream of altered splice site)
396416HELIXmight get lost (downstream of altered splice site)
423429HELIXmight get lost (downstream of altered splice site)
431433HELIXmight get lost (downstream of altered splice site)
434437HELIXmight get lost (downstream of altered splice site)
440443HELIXmight get lost (downstream of altered splice site)
446449HELIXmight get lost (downstream of altered splice site)
453463HELIXmight get lost (downstream of altered splice site)
465469HELIXmight get lost (downstream of altered splice site)
470472HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1528 / 1528
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 32 / 32
chromosome 22
strand 1
last intron/exon boundary 1442
theoretical NMD boundary in CDS 1360
length of CDS 1497
coding sequence (CDS) position 716
cDNA position
(for ins/del: last normal base / first normal base)		 747
gDNA position
(for ins/del: last normal base / first normal base)		 12777
chromosomal position
(for ins/del: last normal base / first normal base)		 40755283
original gDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered gDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
original cDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered cDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
wildtype AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTS
LILSRGVIKA YCNLRLPGSD SSPVSVSQLA RVISRLADFA KERASLPTLG FTHFQPAQLT
TVGKRCCLWI QDLCMDLQNL KRVRDDLRFR GVKGTTGTQA SFLQLFEGDD HKVEQLDKMV
TEKAGFKRAF IITGQTYTRK VDIEVLSVLA SLGASVHKIC TDIRLLANLK EMEEPFEKQQ
IGSSAMPYKR NPMRSERCCS LARHLMTLVM DPLQTASVQW FERTLDDSAN RRICLAEAFL
TADTILNTLQ NISEGLVVYP KVIERRIRQE LPFMATENII MAMVKAGGSR QDCHEKIRVL
SQQAASVVKQ EGGDNDLIER IQVDAYFSPI HSQLDHLLDP SSFTGRASQQ VQRFLEEEVY
PLLKPYESVM KVKAELCL*
mutated AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTS
LILSRGVIKA YCNLRLPGSD SSPVSVSQLA RVISRLADFA KERASLPTLG FTHFQPAQLT
TVGKRCCLWI QDLCMDLQNL KRVRDDLRFR GVKGTTGTQA SFLQLFEGDD HKVEQLDKTV
TEKAGFKRAF IITGQTYTRK VDIEVLSVLA SLGASVHKIC TDIRLLANLK EMEEPFEKQQ
IGSSAMPYKR NPMRSERCCS LARHLMTLVM DPLQTASVQW FERTLDDSAN RRICLAEAFL
TADTILNTLQ NISEGLVVYP KVIERRIRQE LPFMATENII MAMVKAGGSR QDCHEKIRVL
SQQAASVVKQ EGGDNDLIER IQVDAYFSPI HSQLDHLLDP SSFTGRASQQ VQRFLEEEVY
PLLKPYESVM KVKAELCL*
speed 0.12 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999714837277837 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM0910819)
  • known disease mutation: rs2468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40755283T>CN/A show variant in all transcripts   IGV
HGNC symbol ADSL
Ensembl transcript ID ENST00000216194
Genbank transcript ID NM_000026
UniProt peptide P30566
alteration type single base exchange
alteration region CDS
DNA changes c.674T>C
cDNA.730T>C
g.12777T>C
AA changes M225T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 225
frameshift no
known variant Reference ID: rs119450945
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2468 (pathogenic for Adenylosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7331
3.0061
(flanking)2.8591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased12769wt: 0.9918 / mu: 0.9944 (marginal change - not scored)wt: CAGCTTGACAAGATG
mu: CAGCTTGACAAGACG		 GCTT|gaca
Donor increased12782wt: 0.44 / mu: 0.54wt: TGGTGACAGAAAAGG
mu: CGGTGACAGAAAAGG		 GTGA|caga
Donor gained127780.53mu: AAGACGGTGACAGAA GACG|gtga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      225GDDHKVEQLDKMVTEKAGFKRAFI
mutated  not conserved    225GDDHKVEQLDKTVTEKAGFKRAF
Ptroglodytes  all identical  ENSPTRG00000014407  225GDDHKVEQLDKMVTEKAGFKRAF
Mmulatta  all identical  ENSMMUG00000005341  106GDDHKVEQLDKMVTDKAGFKRAF
Fcatus  all conserved  ENSFCAG00000004798  225GDDQKVEQLDKIVTEKAGFKXXX
Mmusculus  all identical  ENSMUSG00000022407  225GDHQKVEQLDKMVTEKAGFKRAF
Ggallus  all conserved  ENSGALG00000012034  226GDHSKVEELDRLVTAKAGFKRSY
Trubripes  all conserved  ENSTRUG00000001024  241GDHDKVEELDRLVTEMASFQKSY
Drerio  all identical  ENSDARG00000017049  223GDHDKVEELDKMVTEMAGFKKSY
Dmelanogaster  all conserved  FBgn0038467  220GDGEKVKQLDQLVTELAGFKKAY
Celegans  all conserved  R06C7.5  221GDESKVEALDELVTKKANFSNRF
Xtropicalis  all identical  ENSXETG00000006328  244GDHDKVEELDRMVTSKAGFKRAY
protein features
start (aa)end (aa)featuredetails 
216229HELIXlost
240242STRANDmight get lost (downstream of altered splice site)
246274HELIXmight get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
299313HELIXmight get lost (downstream of altered splice site)
316323HELIXmight get lost (downstream of altered splice site)
331333HELIXmight get lost (downstream of altered splice site)
334360HELIXmight get lost (downstream of altered splice site)
366380HELIXmight get lost (downstream of altered splice site)
382389HELIXmight get lost (downstream of altered splice site)
396416HELIXmight get lost (downstream of altered splice site)
423429HELIXmight get lost (downstream of altered splice site)
431433HELIXmight get lost (downstream of altered splice site)
434437HELIXmight get lost (downstream of altered splice site)
440443HELIXmight get lost (downstream of altered splice site)
446449HELIXmight get lost (downstream of altered splice site)
453463HELIXmight get lost (downstream of altered splice site)
465469HELIXmight get lost (downstream of altered splice site)
470472HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1455 / 1455
position (AA) of stopcodon in wt / mu AA sequence 485 / 485
position of stopcodon in wt / mu cDNA 1511 / 1511
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 57 / 57
chromosome 22
strand 1
last intron/exon boundary 1425
theoretical NMD boundary in CDS 1318
length of CDS 1455
coding sequence (CDS) position 674
cDNA position
(for ins/del: last normal base / first normal base)		 730
gDNA position
(for ins/del: last normal base / first normal base)		 12777
chromosomal position
(for ins/del: last normal base / first normal base)		 40755283
original gDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered gDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
original cDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered cDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
wildtype AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG
QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD
NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA
ELCL*
mutated AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKTVTEKA GFKRAFIITG
QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD
NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA
ELCL*
speed 0.17 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999714837277837 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM0910819)
  • known disease mutation: rs2468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40755283T>CN/A show variant in all transcripts   IGV
HGNC symbol ADSL
Ensembl transcript ID ENST00000342312
Genbank transcript ID NM_001123378
UniProt peptide P30566
alteration type single base exchange
alteration region CDS
DNA changes c.674T>C
cDNA.701T>C
g.12777T>C
AA changes M225T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 225
frameshift no
known variant Reference ID: rs119450945
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2468 (pathogenic for Adenylosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
known disease mutation at this position, please check HGMD for details (HGMD ID CM0910819)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7331
3.0061
(flanking)2.8591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased12769wt: 0.9918 / mu: 0.9944 (marginal change - not scored)wt: CAGCTTGACAAGATG
mu: CAGCTTGACAAGACG		 GCTT|gaca
Donor increased12782wt: 0.44 / mu: 0.54wt: TGGTGACAGAAAAGG
mu: CGGTGACAGAAAAGG		 GTGA|caga
Donor gained127780.53mu: AAGACGGTGACAGAA GACG|gtga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      225GDDHKVEQLDKMVTEKAGFKRAFI
mutated  not conserved    225GDDHKVEQLDKTVTEKAGFKRAF
Ptroglodytes  all identical  ENSPTRG00000014407  225GDDHKVEQLDKMVTEKAGFKRAF
Mmulatta  all identical  ENSMMUG00000005341  106GDDHKVEQLDKMVTDKAGFKRAF
Fcatus  all conserved  ENSFCAG00000004798  225GDDQKVEQLDKIVTEKAGFKXXX
Mmusculus  all identical  ENSMUSG00000022407  225GDHQKVEQLDKMVTEKAGFKRAF
Ggallus  all conserved  ENSGALG00000012034  226GDHSKVEELDRLVTAKAGFKRSY
Trubripes  all conserved  ENSTRUG00000001024  241GDHDKVEELDRLVTEMASFQKSY
Drerio  all identical  ENSDARG00000017049  223GDHDKVEELDKMVTEMAGFKKSY
Dmelanogaster  all conserved  FBgn0038467  220GDGEKVKQLDQLVTELAGFKKAY
Celegans  all conserved  R06C7.5  221GDESKVEALDELVTKKANFSNRF
Xtropicalis  all identical  ENSXETG00000006328  244GDHDKVEELDRMVTSKAGFKRAY
protein features
start (aa)end (aa)featuredetails 
216229HELIXlost
240242STRANDmight get lost (downstream of altered splice site)
246274HELIXmight get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
299313HELIXmight get lost (downstream of altered splice site)
316323HELIXmight get lost (downstream of altered splice site)
331333HELIXmight get lost (downstream of altered splice site)
334360HELIXmight get lost (downstream of altered splice site)
366380HELIXmight get lost (downstream of altered splice site)
382389HELIXmight get lost (downstream of altered splice site)
396416HELIXmight get lost (downstream of altered splice site)
423429HELIXmight get lost (downstream of altered splice site)
431433HELIXmight get lost (downstream of altered splice site)
434437HELIXmight get lost (downstream of altered splice site)
440443HELIXmight get lost (downstream of altered splice site)
446449HELIXmight get lost (downstream of altered splice site)
453463HELIXmight get lost (downstream of altered splice site)
465469HELIXmight get lost (downstream of altered splice site)
470472HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1278 / 1278
position (AA) of stopcodon in wt / mu AA sequence 426 / 426
position of stopcodon in wt / mu cDNA 1305 / 1305
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 28 / 28
chromosome 22
strand 1
last intron/exon boundary 1219
theoretical NMD boundary in CDS 1141
length of CDS 1278
coding sequence (CDS) position 674
cDNA position
(for ins/del: last normal base / first normal base)		 701
gDNA position
(for ins/del: last normal base / first normal base)		 12777
chromosomal position
(for ins/del: last normal base / first normal base)		 40755283
original gDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered gDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
original cDNA sequence snippet GGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGAT
altered cDNA sequence snippet GGTAGAGCAGCTTGACAAGACGGTGACAGAAAAGGCAGGAT
wildtype AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG
QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQVQR FLEEEVYPLL KPYESVMKVK
AELCL*
mutated AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKTVTEKA GFKRAFIITG
QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQVQR FLEEEVYPLL KPYESVMKVK
AELCL*
speed 0.15 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

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